Disease ID | Source | Name | Description |
613616 | OMIM | Hyperoxaluria primary 3 (HP3) | A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. The disease is caused by variants affecting the gene represented in this entry. |